Transcript Alterations of the Digestive Function in Children - GI-Group-2010

Alterations of the Digestive
Function in Children
Congenital Impairment of Motility
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Cleft lip
Cleft palate
Esophageal Malformation
Pyloric Stenosis
Intestinal Malrotation
Meconium Ileus
Distal Intestinal Obstruction
Obstruction of the Duodenum, Jejunum, Ileum
Congenital Aganglionic Megacolon
Anal-rectal Malformations
Cleft lip and Cleft Palate
Cleft lip is the incomplete fusion of the
nasomedial or intermaxillary process. It is
a deformity usually beneath the center of
one or both nostrils.
 Cleft palate is often associated with cleft
lip but may occur alone.
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A and B show variations of cleft lip. C and D show variations of cleft palate.
Risk factors/causes: Cleft lip and
palate
Multiple gene-environment interactions including
maternal alcohol and tobacco use, diabetes, and genetic
variations.
The cleft can be part of a single mutant gene or
part of chromosomal defect.
Clinical Manifestations:
Feeding may be difficult depending on the severity
of defect and if infant is able to show a productive suck.
Specialized nipples and orthodontic prosthesis for the
roof of the mouth are an option.
Esophageal Malformations
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Esophageal atresia is a condition where
the esophagus ends in a blind pouch. This
is often seen with a fistula between the
esophagus and trachea.
Risk factors/causes: Esophageal
Malformations
Thought to arrive from impaired differentiation as the
trachea separates from the esophagus during the 4th-6th
week of embryonic development, concurrent anorectal
malformation.
Clinical manifestations:
Drooling and occasional aspiration as blind end of
pouch fills and overflows into pharynx.
If there is a fistula feeing and breathing may be
problematic.
Pyloric Stenosis
One of the most common disorders of
early infancy.
 It is an obstruction of the pyloric
sphincter caused by hypertrophy of the
sphincter muscle.
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Pyloric stenosis continued…
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An infant who is well fed and gaining weight
begins to vomit for no apparent reason. Some
evidence shows higher risk in infants with familial
history of pyloric stenosis.
Risk factor/causes: Pyloric Stenosis
Maternal stress related factors (increased gastric
secretion in last trimester), white male, exogenous
administration of prostoglandin E, Downs syndrome, and
genetic relative with pyloric stenosis.
Clinical manifestations:
Projectile vomiting (increasingly forceful), prolonged
retention of food in the stomach, constipation, occasionally
fluid and electrolyte issues, weight loss, and death.
Intestinal Malrotation
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A condition that occurs
in embryonic
development where the
normal rotation of the
ileum and cecum is
altered so that the colon
remains in the URQ. The
small intestine lacks the
normal attachment and
can twist (causing
volvulus) leading to
infarction and necrosis of
part of the intestine.
Clinical manifestations: Intestinal
Malrotation
Volvulus and infarction, bile stained
nausea/vomiting after feedings, abdominal
distention, dehydration and electrolyte
imbalance, fever pain, and bloody stools.
Meconium Ileus
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Meconium is a thick
sticky substance that
fills a newborns entire
intestine and is
normally passed during
the first few days after
birth. Ileus occurs when
abnormally sticky
meconium causes
obstruction in the small
intestine.
Risk factor/causes: Meconium Ileus
Cystic fibrosis, premature birth, maternal
hydramnios
Clinical manifestations:
Abdominal distention, vomiting, possibly pulmonary
involvement (especially with CF, hyperactive perisalsis,
firm movable masses.
DIOS
(Distal Intestinal Obstructive Syndrome)
Intestinal contents become abnormally
thick and impact intestinal lumen.
 Affects 15% of people with cystic fibrosis
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Consider: 31 y/o patient with CF dx with DIOS who in
24h had 5 doses of GoLYTELY, 400mg docolax PO,
200mg senna PO, and 34g polyethylene glycol 3350 PO
with no change in bowel patterns.
Risk factor/causes: DIOS
Cystic fibrosis
Clinical manifestations:
Abdominal distention, pain, nausea, vomiting.
Obstruction of the Duodenum,
Jejunum, and Ileum
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Caused by internal malformation or
external pressure
Risk factor/causes: Obstruction small
intestine
Failure of duodenum to function, peritoneal band
contrition of duodenum, ileus, pancreatic defect,
hHirschsprung, Meckel diverticulum, hernia.
Clinical manifestations:
Pain, nausea, vomiting, distention
Congenital Aganglionic Megacolon
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Functional obstruction of
the colon caused by
inadequate motility. The
most distal part of rectum
is always involved.
Increased incidence in
males, Hirschsprung
disease and Down
syndrome.
Risk factor/causes: Megacolon
Hirschsprung disease, inadequate motility, complex
inheritance factors, male, Downs syndrome.
Clinical manifestations:
Constipation, diarrhea, impaction, edema, ischemia,
infarction of mucosa, sepsis, fever, vomiting, death.
Anorectal Malformation
General category for several conditions
that may obstruct the passage of stool
including:
-anal stenosis
-anal or rectal agenesis
-atresia
-fistula
 Complete obstruction are known as
imperforate anus
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Risk factor/causes: Anorectal
Malformation
Other developmental anomalies, Down syndrome,
congenital heart disease, renal issues, esophageal atresia,
cryptorchidism, malformation of the spine.
Clinical manifestations:
Anal stenosis, bowel incontinence.
Aquired Impairment of Motility
Intussusception
 Gastroesophageal Reflux (GER)
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Intussusception
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Intussusception is the
invagination of one
portion of intestine
into another. Sudden
adominal pain,
vomiting, & possibly
bloody stools. If
untreated almost
always fatal.
Risk factors/causes: Intussusception
Male under 2 years, all ages abdominal
surgery, cystic fibrosis, bowel obstruction
Clinical manifestations:
Sudden pain, irritable (draws up the knees),
vomiting, dark/gelatinous stool, tender sausage
shaped abdominal mass.
Gatroesophageal Reflux
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Involves dilation of esophagus with
intrusion of acid contents. Increased
incidence in children with neurological
impairment, cerebral palsy, and cystic
fibrosis. Eighty-five percent of affected
infants vomit excessively.
Risk factors/causes: GER
Premature infants, cerebral palsy, reactive
airway disease, cystic fibrosis.
Clinical manifestations:
Excessive vomiting (sometimes forceful),
aspiration pneumonia, chronic cough, failure to
thrive, pain, bleeding, iron deficiency.
Impairment of Digestion, Absorption,
and Nutrition
Cystic Fibrosis
 Gluten-Sensitivity Enteropathy
 Protein Energy Malnutrition
 Failure to Thrive
 Necrotizing Enterocolitis
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Cystic Fibrosis (CF)
Hallmark triad: 1) Pancreatic enzyme deficiency
2) overproduction of mucus 3) abnormally
elevated sodium and chloride concentrations
 Once only a childhood disease many people are
surviving into adulthood
 Secondary problems include maldigestion,
diabetes, frequent infections, chronic obstructive
pulmonary disease, cirrhosis, bowel issues
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Risk factors/causes: CF
Genetically inherieted mutation of the long arm of
chromosome 7
Clinical manifestations:
Overproduction/retention of mucus, hyponatremia
and hypocloremia, nutritional deficiencies, diabetes,
pulmonary complications, intestinal complications,
frequent infections.
Gluten-Sensitive Enteropathy
(formerly called Celiac disease)
Loss of mature villious epithelium caused
from eating gluten (protein in wheat, rye, barley, and oats).
 Cellular and humoral immunity are
thought be play a role.
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Risk factors/causes: Gluten-Sensitive
Enteropathy
Concurrent autoimmune diseases, white.
Clinical manifestations:
Diarrhea, pale, bulky, greasy, foul smelling stool,
constipation, vomiting, pain, failure to thrive,
malnutrition.
Failure to Thrive (FTT)
Organic FTT is caused from a known
gastrointestinal source that causes
nutritional deficiencies and inadequate
physical development of an infant or child.
 Nonorganic FTT occurs in the absence of
any known gastrointestinal, endocrine or
other chronic disease and often has
behavioral and psychological roots.
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Risk factors/causes: FTT
Economic and psycho-social deprivation, GER,
pyloric stenosis, intestinal parasite, chronic disease.
Clinical manifestations:
Slowed growth, reduced energy/interaction, stress,
malnutrition.
Necrotizing Enterocolitis (NEC)
Exact etiology unclear
 If not treated bowel necrosis, perforation,
and death can result.
 Contributing factors: infection, immature
immunity, maternal age<35, and perinatal
stress.
 Terminal ileum and proximal colon most
frequently involved.
Risk factors/causes: NEC
Prematurity, newborn full term infants
(risk decreases as GI tract matures)
Clinical manifestations:
Abdominal distention, bowel perforation, sepsis,
pain, temperature, bradycardia, apnea, bloody stool,
elevated WBC, falling platelet counts, death.
Diarrhea
Acute
 Chronic
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Acute Diarrhea
Most commonly from
viral or bacterial
gastroenteritis.
 Rotovirus is the
primary cause of severe
diarrhea in children.
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Risk factors/causes: Acute diarrhea
Bacterial gastroenteritis, antibiotic therapy,
appendicitis, chemotherapy, inflammatory bowel disease,
parasitic invasion, rotavirus, ingestion of toxin.
Clinical manifestations:
Dehydration, electrolyte issues, fatigue, skin
breakdown from stool, abdominal pain, bloating,
flatulence.
Chronic Diarrhea
Occurs with symptoms after 4 weeks
 Most often caused by impaired motility,
lactose intolerance, encopresis, parasitic
infestation, antibiotic use, disease states
that impair absorption
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Risk factors/causes: Chronic diarrhea
Acute diarrhea that has not been treated, increased
prostaglandin synthesis, family history, irritable bowel
syndrome, lactose intolerance.
Clinical manifestations:
Dehydration, electrolyte issues, fatigue, skin
breakdown from stool, abdominal pain, bloating,
flatulence.
Disorders of the Liver
Neonatal Jaundice
 Biliary Atresia
 Hepatitis
 Cirrhosis
 Portal Hypertension
 Metabolic Disorders
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Disorders of the Biliary Metabolism
and Transport
Neonatal Jaundice
 Biliary Atresia
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Neonatal Jaundice
Neonatal jaundice is typically a temporary
benign icterus from a high level
unconjugated hyperbilirubinemia.
 Pathologic jaundice can cause brain
damage. Premature infants are at risk.
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Risk factors/causes: Neonatal jaundice
Premature infants as well as full term (initially
transient and benign).
Clinical Manifestations:
Yellowish discoloration to tissue, increased bilirubin
values, if not treated-respiratory distress, acidosis, sepsis,
encephalopathy, athetoid cerebral palsy, speech and
hearing impairment.
Biliary Atresia
Rare congenital malformation where
there is an absence or obstruction of
intrahepatic or extrahepatic ducts.
 Jaundice, hepatomegaly, and alcoholic (clay
colored) stool are primary signs.
 Cirrhosis and liver failure lead to death if
untreated.
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Risk factor/causes: Biliary Atresia
Congenital chromosomal abnormality
Clinical manifestations:
Jaundice, bile duct destruction, biliary cirrhosis,
portal hypertension, liver failure, hepatomegaly, acholic
stool, death.
Inflammatory Disorders
Hepatitis
 Cirrhosis
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Hepatitis
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Hepatitis A in children account for all reported
cases. Normally self limiting with full recovery.
Hepatitis B occur in infants from mothers who
carry the hepatitis B surface antigen, hemophiliacs,
IV drug users, institutionalized children.
Hepatitis C is caused mostly from blood
transfusions.
Chronic Hepatitis unknown etiology; possibly
autoimmune deficiency.
Interferon has been effective in treating Hepatitis B
and C (and managing some chronic hepatitis.
Risk factor
Hepatitis A
Hepatitis B
Preschool age, poor hygiene
Clinical
Manifestation
nausea, vomiting,
diarrhea
drug users, hemophilia
n/v/d, cirrhosis,
institutionalized children
liver cancer
Hepatitis C
blood transfusions
n/v/d, chronic liver
disease
Chronic Hepatitis
autoimmune related
malaise, anorexia,
fever, GI bleeding,
hepatomegaly, edema,
pain, liver impairment
impairment
Cirrhosis
Excessive formation of fibrous tissue in
response to inflammation and tissue
damage.
 Most chronic liver diseases in children can
progress to cirrhosis
 Complications: portal hypertension,
opening of collateral vessels, and varices.
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Risk factors/causes: Cirrhosis
Chronic liver disease
Clinical manifestations:
Portal hypertension, varices, FTT, developmental
delay, nutritional deficit, gross motor development delay
due to ascites and weakness.
Portal Hypertension
Two basic causes
1) Increased resistance to blood flow with the
portal system
2) Increased volume of portal flow
Two type of Portal Hypertension
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Extrahepatic portal hypertension is most
often caused by obstruction in children (thrombosis in
the portal vein). The liver is usually normal.
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Intrahepatic portal hypertension is most
often caused by cirrhosis. The most common finding is
fibrosis which restricts resistance to blood flow.
Risk factor/causes: Portal Hypertension
Cirrhosis, intraabdominal infection or trauma, portal
vein thrombosis, congenital anomalies, pancreatitis,
hepatic fibrosis, neonatal dehydration, inflammatory
bowel disease, and hypercoagulable states.
Clinical manifestations:
Splenomegaly, upper GI bleeding, ascites, hepatic
encephalopathy, hematemesis, hypoalbuminemia,
prolonged porthrombin times, hyperbilirubinemia,
electrolyte imbalance, hypoglycemia, rupture of
esophageal varices could lead to death.
Metabolic Disorders
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Wilson’s Disease (hepatolenticular
degeneration) is a rare autosomal
recessive defect that causes copper to
accumulate in the liver, brain, kidneys and
corneas.
Risk factor/causes: Wilson’s disease
Autosomal recessive defect of copper metabolism
Clinical manifestations:
Progessive liver disease, intention tremors,
dysarthria, dystonia, Kayser-Fleischer rings, cirrhosis, low
ceruloplasmin, malaise, abdominal pain, jaundice,
anorexia, edema, enlargement of spleen and liver, ascites,
occasional hemolytic crisis, if untreated will develop
behavioral or psychiatric disorders.